title: Prevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care.
abstract: BACKGROUND
  Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain.
  
  
  OBJECTIVE
  To determine the prevalence of DEB in Spain.
  
  
  METHODS
  We used data from 3 incomplete population-based sources (hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA]) and combined them using the 3-source capture-recapture methodology.
  
  
  RESULTS
  We identified 152 living DEB patients. The estimated prevalence of DEB was 6.0 cases per million (95% CI, 4.2-11.8) in adults and 15.3 (95% CI, 10.4-40.8) in children under 18 years of age. The data indicated that 77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA.
  
  
  CONCLUSIONS
  The prevalence of DEB in Spain is 6.0 patients per million (95% CI, 4.2-11.8), a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The north-south difference may represent real geographic differences in prevalence, but it might be due to the fact that most of the data come from registries with a lower than expected catchment. Many patients are not being followed up in centers of reference, do not have genetic diagnosis, and are not members of patients' associations, suggesting that there is room for considerable improvement in their care.
authors.affiliation: Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain. Electronic address: ahernandez_hnj@yahoo.es.
authors.forename: A
authors.initials: A
authors.lastname: Hernandez-Martín
authors.forename: B
authors.initials: B
authors.lastname: Aranegui
authors.forename: M J
authors.initials: MJ
authors.lastname: Escámez
authors.forename: R
authors.initials: R
authors.lastname: de Lucas
authors.forename: A
authors.initials: A
authors.lastname: Vicente
authors.forename: E
authors.initials: E
authors.lastname: Rodríguez-Díaz
authors.forename: J
authors.initials: J
authors.lastname: Bernabeu-Wittel
authors.forename: R
authors.initials: R
authors.lastname: Gonzalez-Hermosa
authors.forename: V
authors.initials: V
authors.lastname: García-Patos
authors.forename: M
authors.initials: M
authors.lastname: Ginarte
authors.forename: J M
authors.initials: JM
authors.lastname: Mascaró
authors.forename: C
authors.initials: C
authors.lastname: Corredera
authors.forename: E
authors.initials: E
authors.lastname: Baselga
authors.forename: J L
authors.initials: JL
authors.lastname: Santiago
authors.forename: A
authors.initials: A
authors.lastname: Chaves
authors.forename: C
authors.initials: C
authors.lastname: Román
authors.forename: M
authors.initials: M
authors.lastname: Evole
authors.forename: A
authors.initials: A
authors.lastname: Martin-Santiago
authors.forename: A
authors.initials: A
authors.lastname: Torrelo
authors.forename: M
authors.initials: M
authors.lastname: Del Río
authors.forename: M
authors.initials: M
authors.lastname: Feito
authors.forename: M A
authors.initials: MA
authors.lastname: Gonzalez-Enseñat
authors.forename: G
authors.initials: G
authors.lastname: Romero
authors.forename: E
authors.initials: E
authors.lastname: Morcillo-Makow
authors.forename: I
authors.initials: I
authors.lastname: Abaitua
authors.forename: I
authors.initials: I
authors.lastname: García-Doval
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D016108:Epidermolysis Bullosa Dystrophica / Q000453:epidemiology* / Q000628:therapy*; D006301:Health Services Needs and Demand / Q000706:statistics & numerical data; D006801:Humans; D007223:Infant; D008875:Middle Aged; D015995:Prevalence; D011446:Prospective Studies; D058996:Quality Improvement; D013030:Spain / Q000453:epidemiology; D055815:Young Adult
keywords: Accesibilidad a servicios de salud; Access to health care services; Epidemiology; Epidemiología; Epidermolysis; Epidermólisis; Prevalence; Prevalencia